Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome.
10.3343/alm.2013.33.5.360
- Author:
Jae Won YUN
1
;
Hyun Kyung CHO
;
Soo Young OH
;
Chang Seok KI
;
Changwon KEE
Author Information
1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. changski@skku.edu
- Publication Type:Case Reports
- Keywords:
Axenfeld-Rieger syndrome;
Homeobox protein PITX2;
FOXC1 protein
- MeSH:
Adult;
Anterior Eye Segment/*abnormalities/pathology;
Base Sequence;
Child, Preschool;
Eye Abnormalities/*genetics/pathology;
Female;
Heterozygote;
Homeodomain Proteins/chemistry/*genetics;
Humans;
Mutation;
Pedigree;
Republic of Korea;
Transcription Factors/chemistry/*genetics
- From:Annals of Laboratory Medicine
2013;33(5):360-363
- CountryRepublic of Korea
- Language:English
-
Abstract:
Axenfeld-Rieger syndrome (ARS) is characterized by anomalies of the anterior segment of the eye and systemic abnormalities. Mutations in the FOXC1 and PITX2 genes are underlying causes of ARS, but there has been few reports on genetically confirmed ARS in Korea. We identified a novel PITX2 mutation (c.300_301delinsT) in 2 Korean patients from a family with ARS. We expand the spectrum of PITX2 mutations and, to the best of our knowledge, this is the first confirmed family of PITX2-related ARS in Korea.
